Morphology and genomic hallmarks of breast tumours developed by ATM deleterious variant carriers.

Fiche publication


Date publication

avril 2018

Journal

Breast cancer research : BCR

Auteurs

Membres identifiés du Cancéropôle Est :
Dr MAUGARD Christine, Pr FAIVRE Laurence


Tous les auteurs :
Renault AL, Mebirouk N, Fuhrmann L, Bataillon G, Cavaciuti E, Le Gal D, Girard E, Popova T, La Rosa P, Beauvallet J, Eon-Marchais S, Dondon MG, d'Enghien CD, Laugé A, Chemlali W, Raynal V, Labbé M, Bièche I, Baulande S, Bay JO, Berthet P, Caron O, Buecher B, Faivre L, Fresnay M, Gauthier-Villars M, Gesta P, Janin N, Lejeune S, Maugard C, Moutton S, Venat-Bouvet L, Zattara H, Fricker JP, Gladieff L, Coupier I, , , , Chenevix-Trench G, Hall J, Vincent-Salomon A, Stoppa-Lyonnet D, Andrieu N, Lesueur F

Résumé

The ataxia telangiectasia mutated (ATM) gene is a moderate-risk breast cancer susceptibility gene; germline loss-of-function variants are found in up to 3% of hereditary breast and ovarian cancer (HBOC) families who undergo genetic testing. So far, no clear histopathological and molecular features of breast tumours occurring in ATM deleterious variant carriers have been described, but identification of an ATM-associated tumour signature may help in patient management.

Mots clés

ATM, Breast tumour, Copy number, Genetic instability, Genomic signature, Loss of heterozygosity, OncoScan array, Pathology

Référence

Breast Cancer Res.. 2018 Apr 17;20(1):28